| |
|
|
Conditions & Diseases: A: A alphalipoprotein Neuropathy |
A alphalipoprotein Neuropathy
information on A alphalipoprotein Neuropathy: Conditions & Diseases, alternative therapies, prescriptions and over-the-counter medicines, mental health treatment, recipes, diabetes treatment, allergy symptoms, women's health awareness, senior health, drug interactions, weight management issues, asthma treatment, health, disease, medicine, illness. Join our active support community now.
|
|
|
 |
|
|
|
A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)
|
|
|
